Restless legs syndrome Wilson´s disease Domina Petric, MD

Restless legs syndrome I. Restless legs syndrome

Restless legs syndrome It is characterized by an unpleasant creeping discomfort that seems to arise deep within the legs and occasionally the arms. Symptoms occur particularly when patients are relaxed, especially when lying down or sitting. Such symptoms may delay the onset of sleep.

Restless legs syndrome A sleep disorder associated with periodic movements during sleep may also occur. Unknown cause. Disorder is especially common among pregnant women and also among uremic or diabtic patients with neuropathy. Genetic loci: 12q12-q21, 14q13-q31, 9p24-p22, 2q33, 20p13.

Restless legs syndrome Symptoms may resolve with correction of coexisting iron-deficiency anemia. Dopaminergic therapy is the preferred treatment: long-acting dopamine agonists (pramipexole 0,125-0,75 mg, ropinirole 0,25-4,0 mg once daily). Augmentation is avoided with long-acting dopamine agonists.

Restless legs syndrome Augmentation refers to the earlier onset or enhancement of symptoms, earlier onset of symptoms at rest and a briefer response to medication. Other treatment: oxycodone gabapentin pregabalin

II. Wilson´s disease

Recessively inherited disorder of copper metabolism: 13q14.3-q21.1 Wilson´s disease Recessively inherited disorder of copper metabolism: 13q14.3-q21.1 Reduced serum copper and ceruloplasmin concentrations. Markedly increased concentration of copper in the brain and viscera. Signs of hepatic and neurologic dysfunction.

Wilson´s disease Neurologic signs: tremor, choreiform movements, rigidity, hypokinesia, dysarthria and dysphagia. Siblings of affected patients should be screened for asymptomatic Wilson´s disease. Treatment: removal of excess copper, maintenance of copper balance, dietary copper below 2 mg daily.

Start dose: 500 mg three or four times daily. Wilson´s disease Penicillamine (dimethylcysteine) is a chelating agent that forms a ring complex with copper. It is readily absorbed from the gastrointestinal tract and rapidly excreted in the urine. Start dose: 500 mg three or four times daily. Adverse effects: nausea, vomiting, nephrotic syndrome, lupus-like syndrome, pemphigus, myasthenia, arthropathy, optic neuropathy, blood dyscrasias.

Wilson´s disease In about 10% of instances, neurologic worsening occurs with penicillamine. Treatment should be monitored by frequent urinalysis and complete blood counts.

Trientine hydrochloride is preferred over penicillamine. Wilson´s disease Trientine hydrochloride is preferred over penicillamine. It may be used in a daily dose of 1-1,5 g.

It is taken both with and between meals. Wilson´s disease Tetrathiomolybdate may be better than trientine for preserving neurologic function in patients with neurologic involvement. It is taken both with and between meals.

The dose is 50 mg three times a day. Wilson´s disease Zinc acetate administered orally increases the fecal excretion of copper and can be used in combination with other agents. The dose is 50 mg three times a day. Zinc sulfate (200 mg/day per os) may also be used to decrease copper absorption. Zinc blocks copper absorption from GI tract by induction of intestinal cell metallothionein.

Liver transplantation. Hepatocyte transplantation. Wilson´s disease Main advantage of zinc is its low toxicity compared with that of other anticopper agents. Zinc may cause gastric irritation when introduced. Liver transplantation. Hepatocyte transplantation. Gene therapy.

Katzung, Masters, Trevor. Basic and clinical pharmacology. Literature Katzung, Masters, Trevor. Basic and clinical pharmacology.